NM_001298.3:c.2050G>A

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  2. NM_001298.3:c.2050G>A

HGVS Expressions

  • NG_009097.1:g.56066G>A
  • NM_001298.3:c.2050G>A
  • NP_001289.1:p.Gly684Arg
  • NC_000002.12:g.98397220G>A

Associated Genes

Cyclic Nucleotide-Gated Channel, Alpha-3
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

754086920

Clinvar

337670

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.12Saudi Arabia2Likely PathogenicRetinitis PigmentosaPatel et al. 2016
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Contributors

  • Sayeeda Hana: 21.08.2024

Edit History

  • Sayeeda Hana: 21.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.